Medical Genetics Test Details
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|Hereditary Paraganglioma/Pheochromocytoma Panel|
|Test Information:||Confirmation of Clinical Diagnosis, Differential Diagnosis
The Hereditary Paraganglioma/Pheochromocytoma Panel uses next-generation sequencing and deletion/duplication analysis to simultaneously analyze selected genes associated with an increased risk for paragangliomas and/or pheochromocytomas. Approximately 25% of all pheochromocytomas and extra-adrenal paragangliomas are believed to be caused by hereditary factors including mutations in SDHB, SDHC, SDHD, SDHAF2, and RET. In general, this test is used when a patient's medical history and family history findings strongly suggest that there is an underlying genetic etiology of paragangliomas and/or pheochromocytomas.
Nine genes involved in hereditary paragangliomas and/or pheochromocytomas are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation Sequence (NGS) technology. The genes analyzed by this panel are tabulated below. Sequencing of these genes is also available using the associated individual test codes.
MAX, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, and VHL.
All coding exons of these 9 genes and at least 20 base pairs of flanking intronic sequences are analyzed. All exonic variants and intronic variants within 20 bp of the exon/intron boundary will be reported. Sequence analysis will not detect genomic structural rearrangements (e.g. heterozygous deletions, duplications, and inversions), large heterozygous insertion mutations (e.g. ALU mediated insertion), and mutations within the promoter or deep intronic regions. Mutations and novel variants detected by NGS are confirmed by Sanger sequencing.
The panel also includes gross copy number analyses of these genes by MLPA and/or aCGH. Certain exons with no known gross deletion/duplication mutations, or certain genes/exons with highly homologous sequences in the genome may not be evaluated by this copy number analysis.
|Methodology:||Targeted Capture followed by Massively Parallel Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA), and/or Array CGH Analysis (aCGH).|
|Gene Name:||MAX, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL|
|Sample & Shipping Information|
|Test Requisition:||Cancer Molecular Germline|
|Requirements:||Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children).
|Shipping Conditions:||Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
|Turn Around Time:||8 weeks|
|List Price:||*For Insurance or Institutional Prices, please call.|
|CPT Codes:||81404x2, 81405x2, 81406x1, 81479x4|